Absence of subtelomeric rearrangements in selected patients with mental retardation as assessed by multiprobe T FISH

Table 1 Clinical data, complementary exams and familial history of patients

Patients ID	MSA	COA	JOS	CCBN	MCSF	AJSF	YPM	JPM	RBB	RoBB	YMB	WMC	JCTFS	LBP	LAS
File number	622076	537048	486383	568752	616423	561932	537160	537162	569901	569575	565119	379028	491362	577557	578487
Birthday	10/8/1985	19/9/1988	10/9/1992	19/7/1984	26/9/2004	28/1/2002	20/4/1995	20/4/1995	2/9/1997	2/9/1997	28/4/1992	24/6/1989	2/9/1995	13/10/1998	21/9/2001
Gender	F	F	F	F	F	M	M	M	M	M	M	M	M	M	M
BW (g)	2360	3100	2850	3350	2580	2625	2750	3000	2230	3050	3340	3630	2010	1235	2155
BL (cm)	45	45	48	50	48	47	-	-	-	-	48	48	43	39	-
BHC (cm)	31	-	-	-	32	33	-	-	-	-	-	-	-	31	-
Age (years)	20	17	13	20	11^5/12	4	10	10	8^2/12	8^2/12	13	15	9	6	4
W (kg)	49.5	43.9	67	67.5	29.8	12.5	41.5	39.2	27.5	28	34.4	63.5	23	17	11.3
H (cm)	142	134	156	150	134.5	97.5	137.5	134.5	125	128	137.5	160	121.5	111	100
HC (cm)	50.5	52	52.5	53	51.5	44.5	54	53	51	51	52	58	51	49.5	48
MF	Y	N	N	Y	N	Y	N	N	Y	Y	N	N	N	Y	Y
DD	Y	Y	Y	Y	Y	Y	Y	Y	Y	Y	Y	Y	Y	Y	Y
Dysmorphism	Y	Y	Y	Y	Y	Y	Y	Y	Y	Y	Y	Y	Y	Y	Y
CS	N	N	N	N	N	N	N	N	N	N	Y	Y	N	N	N
FH	N	N	N	N	Y	Y	Y	Y	Y	Y	Y	Y	Y	Y	Y
LD/MR	Y/Y	Y/Y	Y/Y	Y/Y	Y/Y	Y/Y	Y/Y	Y/Y	Y/Y	Y/Y	Y/Y	Y/Y	Y/Y	Y/Y	Y/Y
X fragile	NEG	-	NEG	NEG	-	NEG	NEG	NEG	NEG	NEG	NEG	NEG	NEG	NEG	NEG
NeuroEv	Y	Y	Y	Y	-	Y	Y	Y	Y	Y	-	Y	Y	Y	Y
CCT / MR	ANL	NL	NL	NL	NL	NL	NL	NL	ANL	ANL	ANL	ANL	ANL	NL	ANL
EEG	ANL	-	NL	-	-	ANL	NL	NL	ANL	ANL	ANL	ANL	ANL	ANL	NL
TORCHS	NEG	NEG	NEG	NEG	NEG	NEG	NEG	NEG	NEG	NEG	NEG	NEG	ANL	NEG	NEG
IEM	NEG	NEG	I	NEG	NEG	NEG	I	I	I	I	NEG	NEG	NEG	NEG	I
BERA	NL	NL	NL	NL	NL	-	NL	NL	-	-	NL	NL	ANL	NL	NL
Ophtalmo Ev	NL	NL	NL	NL	NL	NL	ANL	ANL	NL	NL	NL	ANL	ANL	NL	ANL
DeVries	8	5	4	5	7	8	4	5	5	7	6	5	8	8	7

Birth Weight (BW); Birth Length (BL); Birth Head Circumference (BHC); Weight (W); Height (H); Head Circumference (HC); Malformation (MF); Developmental Delay (DD); Consanguinity; (CS) Familial History (FH); Learning Disabilities (LD)/ Mental Retardation (MR); Neurologic Evaluation (NeuroEv); Cranio Computerized Tomography (CCT) or Cranio Magnetic Resonance (CMR); Electroencephalography (EEG); Toxoplasmosis, rubella, citomegalovirus, herpes virus and syphilis sorology (TORCHS); Inborn Erros of Metabolism (IEM); otoacustic potencials evoked evaluation (BERA); Ophtalmo Evaluation (Ophtalmo Ev).
Female (F); Male (M); Yes (Y); No (N); Negative (NEG); Inconclusive (I); Normal (NL); Abnormal (ANL) clinical score (DeVries).

ISSN: 1477-5751